A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6004



Internal ID15191174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184350409..184396102hg38UCSC Ensembl
Outerchr1:184319543..184365236hg19UCSC Ensembl
Outerchr1:182586166..182631859hg18UCSC Ensembl
Outerchr1:181051200..181096893hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3845694
hg1945694
hg1845694
hg1745694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3821
Supporting Variants
SamplesNA12156
Known GenesC1orf21
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv6004
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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